HGVS | Genome Assembly |
---|---|
NC_000017.11:g.61590828T>G , CM000679.2:g.61590828T>G | GRCh38 |
NC_000017.10:g.59668189T>G , CM000679.1:g.59668189T>G | GRCh37 |
NC_000017.9:g.57022971T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521764.3:c.353A>C MANE Select | ENSP00000427802.1:p.Asp118Ala | |
ENST00000521764.2:c.353A>C | ENSP00000427802.1:p.Asp118Ala | |
NM_199290.3:c.353A>C | NP_954984.1:p.Asp118Ala | |
NM_199290.4:c.353A>C MANE Select | NP_954984.1:p.Asp118Ala |